Canonical Allele Identifier: CA2658215185

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201329-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201333_26201334del , CM000664.2:g.26201333_26201334del	GRCh38
NC_000002.11:g.26424202_26424203del , CM000664.1:g.26424202_26424203del	GRCh37
NC_000002.10:g.26277706_26277707del	NCBI36
NG_007121.1:g.48290_48291del
NG_007121.2:g.48291_48292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-11_1221-10del (HADHA) MANE Select	ENSP00000370023.3:n.1221-11_1221-10del
ENST00000492433.2:c.1221-11_1221-10del (HADHA)	ENSP00000438039.2:n.1221-11_1221-10del
ENST00000643057.1:c.*1112-11_*1112-10del (HADHA)	ENSP00000493761.1:n.*1112-11_*1112-10del
ENST00000643063.1:c.*267-11_*267-10del (HADHA)	ENSP00000495353.1:n.*267-11_*267-10del
ENST00000643233.1:c.*1112-11_*1112-10del (HADHA)	ENSP00000493880.1:n.*1112-11_*1112-10del
ENST00000644428.1:c.1221-11_1221-10del (HADHA)	ENSP00000495560.1:n.1221-11_1221-10del
ENST00000645274.1:c.1116-11_1116-10del (HADHA)	ENSP00000493996.1:n.1116-11_1116-10del
ENST00000646031.1:c.580-11_580-10del (HADHA)
ENST00000646483.1:c.1087-11_1087-10del (HADHA)	ENSP00000496185.1:n.1087-11_1087-10del
ENST00000380649.7:c.1221-11_1221-10del (HADHA)	ENSP00000370023.3:n.1221-11_1221-10del
NM_000182.4:c.1221-11_1221-10del (HADHA)	NP_000173.2:n.1221-11_1221-10del
XM_011532567.1:c.1684-900_1684-899del (GAREM2)	XP_011530869.1:n.1684-900_1684-899del
XM_011532567.3:c.1684-900_1684-899del (GAREM2)	XP_011530869.1:n.1684-900_1684-899del
NM_000182.5:c.1221-11_1221-10del (HADHA) MANE Select	NP_000173.2:n.1221-11_1221-10del